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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
Author / Creator:Shchagina, Olga ; Fedotov, Valeriy ; Markova, Tatiana ; Shatokhina, Olga ; Ryzhkova, Oksana ; Fedotova, Tatiana ; Polyakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-08, Vol.23 (17), p.9576
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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Author / Creator:Ionova, Sofya A. ; Murtazina, Aysylu F. ; Marakhonov, Andrey A. ; Shchagina, Olga A. ; Ryadninskaya, Nina V. ; Tebieva, Inna S. ; Kadyshev, Vitaly V. ; Borovikov, Artem O. ; Ginter, Evgeny K. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-09, Vol.25 (17), p.9734
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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene
Author / Creator:Tebieva, Inna S. ; Mishakova, Polina V. ; Gabisova, Yulia V. ; Khokhova, Alana V. ; Kaloeva, Tamara G. ; Marakhonov, Andrey V. ; Shchagina, Olga A. ; Polyakov, Alexander V. ; Ginter, Evgeny K. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-05, Vol.25 (9), p.4598
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Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome
Author / Creator:Beskorovainaya, Tatiana ; Konovalov, Fedor ; Demina, Nina ; Shchagina, Olga ; Pashchenko, Maria ; Kanivets, Ilya ; Pyankov, Denis ; Ryzhkova, Oxana ; Polyakov, Alexander
Publisher:New York: Springer US
Journal title:Journal of autism and developmental disorders, 2021-06, Vol.51 (6), p.2159-2163
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Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome
Author / Creator:Bobreshova, Anastasia M. ; Ionova, Sofya A. ; Kadyshev, Vitaly V. ; Sukhanova, Natella V. ; Viakhireva, Iuliia V. ; Filatova, Alexandra Yu ; Zhurkova, Natalia V. ; Sparber, Peter A. ; Marakhonov, Andrey V. ; Vasilyeva, Tatyana A. ; Shchagina, Olga A. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-10, Vol.25 (20), p.11260
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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Author / Creator:Sparber, Peter ; Sharova, Margarita ; Filatova, Alexandra ; Shchagina, Olga ; Ivanova, Evgeniya ; Dadali, Elena ; Skoblov, Mikhail
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-10, Vol.21 (S1), p.197-5, Article 197
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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
Author / Creator:Ionova, Sofya A. ; Murtazina, Aysylu F. ; Tebieva, Inna S. ; Getoeva, Zalina K. ; Dadali, Elena L. ; Chausova, Polina A. ; Shchagina, Olga A. ; Marakhonov, Andrey V. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (20), p.12127
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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Author / Creator:Marakhonov, Andrey V ; Efimova, Irina Yu ; Mukhina, Anna A ; Zinchenko, Rena A ; Balinova, Natalya V ; Rodina, Yulia ; Pershin, Dmitry ; Ryzhkova, Oxana P ; Orlova, Anna A ; Zabnenkova, Viktoriia V ; Cherevatova, Tatiana B ; Beskorovainaya, Tatiana S ; Shchagina, Olga A ; Polyakov, Alexander V ; Markova, Zhanna G ; Minzhenkova, Marina E ; Shilova, Nadezhda V ; Larin, Sergey S ; Khadzhieva, Maryam B ; Dudina, Ekaterina S ; Kalinina, Ekaterina V ; Mudaeva, Dzhaina A ; Saydaeva, Djamila H ; Matulevich, Svetlana A ; Belyashova, Elena Yu ; Yakubovskiy, Grigoriy I ; Tebieva, Inna S ; Gabisova, Yulia V ; Irinina, Nataliya A ; Nurgalieva, Liya R ; Saifullina, Elena V ; Belyaeva, Tatiana I ; Romanova, Olga S ; Voronin, Sergey V ; Shcherbina, Anna ; Kutsev, Sergey I
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2024-05, Vol.44 (4), p.93
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Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema
Author / Creator:Shchagina, Olga ; Gracheva, Elena ; Chukhrova, Alyona ; Bliznets, Elena ; Bychkov, Igor ; Kutsev, Sergey ; Polyakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-01, Vol.12 (1), p.72
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A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
Author / Creator:Shchagina, Olga ; Bessonova, Ludmila ; Bychkov, Igor ; Beskorovainaya, Tatiana ; Poliakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-07, Vol.11 (7), p.821
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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
Author / Creator:Mikhalchuk, Kristina ; Shchagina, Olga ; Chukhrova, Alena ; Zabnenkova, Viktoria ; Chausova, Polina ; Ryadninskaya, Nina ; Vlodavets, Dmitry ; Kutsev, Sergei I. ; Polyakov, Alexander
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2023-05, Vol.9 (2), p.29
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
Author / Creator:Marakhonov, Andrey V. ; Mishina, Irina A. ; Kadyshev, Vitaly V. ; Repina, Svetlana A. ; Shurygina, Maria F. ; Shchagina, Olga A. ; Vasserman, Natalya N. ; Vasilyeva, Tatyana A. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-10, Vol.21 (S1), p.156-5, Article 156
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Presentation of Rare Phenotypes Associated with the FKBP10 Gene
Author / Creator:Merkuryeva, Elena S. ; Markova, Tatiana V. ; Kenis, Vladimir M. ; Agranovich, Olga E. ; Dan, Ivan M. ; Kotalevskaya, Yulia Y. ; Shchagina, Olga A. ; Ryzhkova, Oxana P. ; Fomenko, Sergei S. ; Dadali, Elena L. ; Kutsev, Sergey I.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-05, Vol.15 (6), p.674
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Genetic and Clinical Spectrum of GNE Myopathy in Russia
Author / Creator:Murtazina, Aysylu ; Nikitin, Sergey ; Rudenskaya, Galina ; Sharkova, Inna ; Borovikov, Artem ; Sparber, Peter ; Shchagina, Olga ; Chukhrova, Alena ; Ryzhkova, Oksana ; Shatokhina, Olga ; Orlova, Anna ; Udalova, Vasilisa ; Kanivets, Ilya ; Korostelev, Sergey ; Polyakov, Alexander ; Dadali, Elena ; Kutsev, Sergey
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-10, Vol.13 (11), p.1991
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Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients
Author / Creator:Shchagina, Olga ; Stepanova, Anna ; Mishakova, Polina ; Kadyshev, Vitaliy ; Demina, Nina ; Bessonova, Ludmila ; Ionova, Sofya ; Guseva, Daria ; Marakhonov, Andrey ; Zinchenko, Rena ; Kutsev, Sergey ; Polyakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-10, Vol.12 (10), p.2234
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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father
Author / Creator:Olga, Shchagina ; Natalia, Semenova ; Igor, Bychkov ; Alena, Chukhrova ; Ekaterina, Zakharova ; Oksana, Ryzhkova ; Zhanna, Markova ; Nadezhda, Shilova ; Aleksander, Poliakov
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2020-12, Vol.99 (1), p.29-29, Article 29
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Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening
Author / Creator:Mikhalchuk, Kristina ; Polyakov, Aleksander ; Zabnenkova, Viktoria V. ; Ismagilova, Olga ; Shchagina, Olga
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-03, Vol.26 (5), p.1984
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Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
Author / Creator:Shchagina, Olga ; Orlova, Mariya ; Murtazina, Aisylu ; Filatova, Alexandra ; Skoblov, Mikhail ; Dadali, Elena
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-06, Vol.24 (12), p.9786
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A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa
Author / Creator:Ogorodova, Natalya ; Stepanova, Anna ; Kadyshev, Vitaly ; Kuznetsova, Svetlana ; Ismagilova, Olga ; Chukhrova, Alena ; Polyakov, Aleksandr ; Kutsev, Sergey ; Shchagina, Olga
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22), p.12169
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Specificities of the DMD Gene Mutation Spectrum in Russian Patients
Author / Creator:Zinina, Elena ; Bulakh, Maria ; Chukhrova, Alena ; Ryzhkova, Oksana ; Sparber, Peter ; Shchagina, Olga ; Polyakov, Aleksander ; Kutsev, Sergey
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (21), p.12710
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Showing 1 to 20 of 46 results

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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

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Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

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Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome

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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

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Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema

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A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

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Presentation of Rare Phenotypes Associated with the FKBP10 Gene

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Genetic and Clinical Spectrum of GNE Myopathy in Russia

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Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

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Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

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Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

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A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa

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Specificities of the DMD Gene Mutation Spectrum in Russian Patients

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